A Case of Familial Hemophagocytic Lymphohistiocytosis Type 3 Caused by UNC13D Mutation with Literature Review

Corresponding author: Li Xiao-Ying, lxy_jn@email.sdu.edu.cn

DOI: 10.12201/bmr.202508.00022

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  Abstract: Familial Hemophagocytic Lymphohistiocytosis (FHL) is an overactive inflammatory disorder caused by mutations in genes associated with the granule-dependent exocytosis pathway. It typically presents before the age of 1, with cases in neonates being less common. The clinical manifestations are often non-specific, and the disease progresses rapidly; without timely diagnosis and treatment, it can lead to death. This report details the diagnostic and treatment process for a neonate with Familial Hemophagocytic Lymphohistiocytosis Type 3 (FHL3), along with a summary of the clinical features of 11 previously reported neonates with FHL. The patient in this case presented with fever, hepatosplenomegaly, and pancytopenia. Genetic testing confirmed the diagnosis of FHL3, revealing a homozygous c.118-308C>T mutation in the UNC13D gene. After treatment, the patients condition showed significant improvement. The report also explores treatment options for FHL3, highlighting the critical role of hematopoietic stem cell transplantation (HSCT) in managing FHL3 patients. Early diagnosis and standardized treatment are essential for improving the prognosis of FHL3 patients.

  Key words: Familial Hemophagocytic Lymphohistiocytosis; Neonate; UNC13D Gene Mutation; Early Diagnosis

  Submit time: 9 August 2025

  Copyright: The copyright holder for this preprint is the author/funder, who has granted biomedRxiv a license to display the preprint in perpetuity.
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